Variant report

Variant	rs12533231
Chromosome Location	chr7:56442861-56442862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11487201	1.00[ASN][1000 genomes]
rs12532097	1.00[ASN][1000 genomes]
rs12534308	0.89[CEU][hapmap]
rs12534871	1.00[ASN][1000 genomes]
rs12535550	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs28668797	1.00[ASN][1000 genomes]
rs4323430	1.00[ASN][1000 genomes]
rs4338056	1.00[ASN][1000 genomes]
rs4464919	1.00[ASN][1000 genomes]
rs56887188	1.00[ASN][1000 genomes]
rs57225644	1.00[ASN][1000 genomes]
rs60725536	1.00[ASN][1000 genomes]
rs66498929	1.00[ASN][1000 genomes]
rs66560083	1.00[ASN][1000 genomes]
rs67563578	1.00[ASN][1000 genomes]
rs67666930	1.00[ASN][1000 genomes]
rs67686086	1.00[ASN][1000 genomes]
rs67936971	1.00[ASN][1000 genomes]
rs6942963	1.00[ASN][1000 genomes]
rs73124617	1.00[ASN][1000 genomes]
rs73138216	1.00[ASN][1000 genomes]
rs7784299	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv888065	chr7:56319050-56580547	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
14	esv20779	chr7:56419329-56445602	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv970484	chr7:56423910-56479115	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv19896	chr7:56434646-56443087	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
17	esv992296	chr7:56434811-56442942	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
18	esv1814869	chr7:56435573-56444510	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	esv3448449	chr7:56435658-56443856	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
20	esv3451067	chr7:56435658-56443956	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
21	esv3345417	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
22	esv3360735	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
23	esv3374306	chr7:56436358-56443856	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
24	esv3381297	chr7:56436358-56443856	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
25	nsv966930	chr7:56440900-56461705	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12533231	CHCHD2	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56441400-56443000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:56441400-56443000	Weak transcription	Aorta	Aorta
3	chr7:56441400-56443000	Weak transcription	Ovary	ovary
4	chr7:56442600-56443400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56442800-56443400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links